List of variants reported as pathogenic for Sandhoff disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	rs373979283	0.00001
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)	rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs)	rs398123443
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)	rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs)	rs1324338803
NM_000521.4(HEXB):c.1509-26G>A	rs201580118
NM_000521.4(HEXB):c.171del (p.Trp57fs)	rs771973471
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	rs573447174
NM_000521.4(HEXB):c.782_785del (p.Ser261fs)	rs1312009126

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